Genomics and medicine: hopes and challenges

Abstract

The major impact of the completion of the human genome sequence is the understanding of disease etiology with deduced therapy. The catalog of monogenic diseases should be easily completed through in silico cloning. The major challenge today is to decipher the polygenic and multifactorial etiology of common diseases, such as cancer, cardiovascular, nutritional, allergic, auto-immune, degenerative disorders. In fact every gene, when mutated, is a potential disease gene, and we end up with the new concept of ‘reverse medicine’, by which we will derive new morbid entities and pathogenic pathways from the knowledge of the structure and function of every gene. A new molecular and supramolecular integrated physiology will help build a molecular pathophysiology of the different syndromes, from which etiologic therapy will derive. The revolution in nosology, the problem of predictive medicine when therapeutic curative or preventive measure are lagging behind, are some of the novel challenges that molecular medicine has to face.